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[Usefulness of combined sequencing of the mitochondrial genome and a targeted panel of nuclear genes involved in mitochondrial diseases].
Rucheton B, Ader F, Goudenege D, Filaut S, Legrand L, Bloch A, MitoDiag R, Fressart V, Bonnefont-Rousselot D, Mochel F, Lamari F, Richard P, Procaccio V, Bannwarth S. Rucheton B, et al. Among authors: procaccio v. Ann Biol Clin (Paris). 2021 Feb 1;79(1):28-40. doi: 10.1684/abc.2021.1621. Ann Biol Clin (Paris). 2021. PMID: 33586649 Free article. French.
Molecular analysis of ANT1, TWINKLE and POLG in patients with multiple deletions or depletion of mitochondrial DNA by a dHPLC-based assay.
Naïmi M, Bannwarth S, Procaccio V, Pouget J, Desnuelle C, Pellissier JF, Rötig A, Munnich A, Calvas P, Richelme C, Jonveaux P, Castelnovo G, Simon M, Clanet M, Wallace D, Paquis-Flucklinger V. Naïmi M, et al. Among authors: procaccio v. Eur J Hum Genet. 2006 Aug;14(8):917-22. doi: 10.1038/sj.ejhg.5201627. Epub 2006 Apr 26. Eur J Hum Genet. 2006. PMID: 16639411
Whole mitochondrial genome screening in maternally inherited non-syndromic hearing impairment using a microarray resequencing mitochondrial DNA chip.
Lévêque M, Marlin S, Jonard L, Procaccio V, Reynier P, Amati-Bonneau P, Baulande S, Pierron D, Lacombe D, Duriez F, Francannet C, Mom T, Journel H, Catros H, Drouin-Garraud V, Obstoy MF, Dollfus H, Eliot MM, Faivre L, Duvillard C, Couderc R, Garabedian EN, Petit C, Feldmann D, Denoyelle F. Lévêque M, et al. Among authors: procaccio v. Eur J Hum Genet. 2007 Nov;15(11):1145-55. doi: 10.1038/sj.ejhg.5201891. Epub 2007 Jul 18. Eur J Hum Genet. 2007. PMID: 17637808
Rapid identification of mitochondrial DNA (mtDNA) mutations in neuromuscular disorders by using surveyor strategy.
Bannwarth S, Procaccio V, Rouzier C, Fragaki K, Poole J, Chabrol B, Desnuelle C, Pouget J, Azulay JP, Attarian S, Pellissier JF, Gargus JJ, Abdenur JE, Mozaffar T, Calvas P, Labauge P, Pages M, Wallace DC, Lambert JC, Paquis-Flucklinger V. Bannwarth S, et al. Among authors: procaccio v. Mitochondrion. 2008 Mar;8(2):136-45. doi: 10.1016/j.mito.2007.10.008. Epub 2007 Nov 6. Mitochondrion. 2008. PMID: 18078792
208 results